Association ofPRPS1Mutations with Disease Phenotypes
نویسندگان
چکیده
منابع مشابه
Association of PRPS1 Mutations with Disease Phenotypes
Phosphoribosylpyrophosphate synthetase 1 (PRPS1) codes for PRS-I enzyme that catalyzes the first step of nucleotide synthesis. PRPS1 gene mutations have been implicated in a number of human diseases. Recently, new mutations in PRPS1 have been identified that have been associated with novel phenotypes like diabetes insipidus expanding the spectrum of PRPS1-related diseases. The purpose of this r...
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ژورنال
عنوان ژورنال: Disease Markers
سال: 2015
ISSN: 0278-0240,1875-8630
DOI: 10.1155/2015/127013